title: Localization of the von Hippel-Lindau disease gene to a small region of chromosome 3.
abstract: We studied 25 families with von Hippel-Lindau disease (VHL) to locate VHL more precisely on chromosome 3. We found that VHL was linked to RAF1, confirming previous observations, and to two polymorphic DNA markers, D3S18 and D3S191. Multipoint linkage analysis indicated that the most likely location for VHL was in the interval between RAF1 and D3S18. D3S18 was located at 3p26. Genetic heterogeneity was not detected in this panel of von Hippel-Lindau disease families. The polymorphic markers RAF1, D3S18, and D3S191 should be useful in identifying asymptomatic gene carriers in VHL families and in guiding efforts at gene isolation.
authors.affiliation: Laboratory of Immunobiology, National Cancer Institute-Frederick Cancer Research Facility, Maryland 21701.
authors.forename: S
authors.initials: S
authors.lastname: Hosoe
authors.forename: H
authors.initials: H
authors.lastname: Brauch
authors.forename: F
authors.initials: F
authors.lastname: Latif
authors.forename: G
authors.initials: G
authors.lastname: Glenn
authors.forename: L
authors.initials: L
authors.lastname: Daniel
authors.forename: S
authors.initials: S
authors.lastname: Bale
authors.forename: P
authors.initials: P
authors.lastname: Choyke
authors.forename: M
authors.initials: M
authors.lastname: Gorin
authors.forename: E
authors.initials: E
authors.lastname: Oldfield
authors.forename: A
authors.initials: A
authors.lastname: Berman
mesh_terms: D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D005260:Female; D005799:Genes, Dominant; D008040:Genetic Linkage; D006801:Humans; D008297:Male; D010375:Pedigree; D011110:Polymorphism, Genetic; D006623:von Hippel-Lindau Disease / Q000235:genetics*